A novel nonsense EIF1AX mutation identified in a thyroid nodule histologically diagnosed as oncocytic carcinoma

Excerpt

Thyroid nodules are common in the general population (prevalence 16–68% depending on the screening method and population analyzed) [1]. Over 90% of the nodules detected are benign and will never undergo transformation [2, 3]. Accurate preoperative identification of these lesions reduces the risk of unneeded surgery [2]. Preoperative diagnoses of malignancy are based mainly on suspicious ultrasonographic findings verified by cytological examination of fine-needle aspirates (FNA) [4, 5]. For cytologically indeterminate nodules (~25%) [4, 6], molecular analyses of the aspirates can often help to identify or exclude malignancy [7]. A promising tool for this purpose is the ThyroSeq v2 mutation panel [8], which can identify single-nucleotide variants, indels, and gene fusions currently known to drive thyroid carcinogenesis, including several recently identified by The Cancer Genome Analysis (TCGA) network [9]. Using a similar NGS-based approach, we identified a novel EIF1AX mutation in a cytologically indeterminate thyroid nodule that ultimately proved to be an angioinvasive oncocytic thyroid carcinoma. …